Linked Data
dbSNP Id:
rs1566416471
gnomAD v2:
14-31359017-GAAAGAA-G
gnomAD v4:
14-30889811-GAAAGAA-G
MyVariant Identifiers:
chr14:g.31359018_31359023del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30889816_30889821del , CM000676.2:g.30889816_30889821del | GRCh38 |
| NC_000014.8:g.31359022_31359027del , CM000676.1:g.31359022_31359027del | GRCh37 |
| NC_000014.7:g.30428773_30428778del | NCBI36 |
| NG_008211.2:g.20282_20287del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.*25_*30del | ENSP00000216361.5:n.*25_*30del | |
| ENST00000396618.9:c.*25_*30del MANE Select | ENSP00000379862.3:n.*25_*30del | |
| ENST00000555117.2:c.1534+3504_1534+3509del | ENSP00000493569.1:n.1534+3504_1534+3509del | |
| ENST00000643575.1:c.*2+23_*2+28del | ENSP00000494838.1:n.*2+23_*2+28del | |
| ENST00000643697.1:n.1980_1985del | ||
| ENST00000644874.2:c.*25_*30del | ENSP00000496360.1:n.*25_*30del | |
| ENST00000216361.8:c.*25_*30del | ENSP00000216361.4:n.*25_*30del | |
| ENST00000396618.7:c.*25_*30del | ENSP00000379862.3:n.*25_*30del | |
| ENST00000460581.6:c.*25_*30del | ENSP00000451713.1:n.*25_*30del | |
| ENST00000468826.2:c.1329_1334del | ||
| ENST00000475087.5:c.1477+3504_1477+3509del | ENSP00000451528.1:n.1477+3504_1477+3509del | |
| NM_001135058.1:c.*25_*30del | NP_001128530.1:n.*25_*30del | |
| NM_004086.2:c.*25_*30del | NP_004077.1:n.*25_*30del | |
| XM_011536539.1:c.*2+23_*2+28del | XP_011534841.1:n.*2+23_*2+28del | |
| NM_001347720.1:c.*25_*30del | NP_001334649.1:n.*25_*30del | |
| XM_017021071.1:c.*25_*30del | XP_016876560.1:n.*25_*30del | |
| XM_024449506.1:c.*25_*30del | XP_024305274.1:n.*25_*30del | |
| NM_004086.3:c.*25_*30del MANE Select | NP_004077.1:n.*25_*30del | |
| NM_001135058.2:c.*25_*30del | NP_001128530.1:n.*25_*30del | |
| NM_001347720.2:c.*25_*30del | NP_001334649.1:n.*25_*30del |